Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001779497 | SCV002015018 | uncertain significance | not specified | 2021-10-02 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002541105 | SCV003525521 | uncertain significance | Noonan syndrome | 2022-06-14 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 109 of the RRAS protein (p.Ala109Thr). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1321403). This variant has not been reported in the literature in individuals affected with RRAS-related conditions. This variant is not present in population databases (gnomAD no frequency). |
Ambry Genetics | RCV001779497 | SCV003997896 | uncertain significance | not specified | 2023-04-22 | criteria provided, single submitter | clinical testing | The p.A109T variant (also known as c.325G>A), located in coding exon 3 of the RRAS gene, results from a G to A substitution at nucleotide position 325. The alanine at codon 109 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |